ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA353983
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222662
ClinVar RCV Id:
RCV000208313
RCV000213286
RCV000996539
RCV000798524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Glu301Gly
CA353980
NM_002230.4:c.902A>G